rs12478601
This is a intron variant variant in the THADA gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
polycystic ovary syndrome
Chen ZJ et al. “Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.” Nature Genetics 43(1):55-9 (2011)
Allele C
OR 1.39
p 3.0e-23
N 1,639
Large GWAS
East Asian
blood urea nitrogen amount
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.02
p 9.0e-15
N 598,949
Major Consortium StudyLarge GWAS
multi-ancestry
systolic blood pressure
Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele T
OR 0.16
p 4.0e-13
N 1,164,961
Meta-analysisLarge GWAS
European
osteoclast-associated immunoglobulin-like receptor measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.03
p 2.0e-12
N 47,745
Large GWAS
European
signal-regulatory protein beta-1 measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.03
p 2.0e-12
N 47,745
Large GWAS
European
About THADA
This gene is the target of 2p21 choromosomal aberrations in benign thyroid adenomas. Single nucleotide polymorphisms (SNPs) in this gene may be associated with type 2 diabetes and polycystic ovary syndrome. The encoded protein is likely involved in the death receptor pathway and apoptosis. [provided by RefSeq, Sep 2016]
View all THADA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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